Maria Caluianu - 2022 UCL Three Minute Thesis Winner

next up is from the population health sciences maria cagliano with getting a molecule train back on its tracks good luck thank you sorry so imagine you're about to have your first child you're really excited but you're also really nervous so the day comes and after quite a few hours of labor your baby's born you're exhausted but you're ready to take them home imagine at this point realizing that your child is not well watching over the next few months as they develop liver kidney and bone problems fail to gain any weight and then be told by

your doctor that your child has a severe incurable genetic disorder imagine then watching them pass away at only six months of age now i can see all of you looking at me going maria why did you have to start with this it's so depressing well i started with this because this is a disease i study it's called arc syndrome and it's caused by one single typo in a single gene in a child's genetic code so how does one single typo do all of this well to understand this you have to understand that every cell in

your body has a system a bit like train tracks that gets molecules to where they need to go this is called the endo lysosomal system so think of it this way if london is a cell and each one of us is a molecule yeah the endolysosomal system is the london tube so we all have jobs right the tube gets us to where we need to go we do whatever we need to do and we keep london running so what this one typo does is it removes a really important bit of the train tracks so all

these different tubes start to derail yeah so it's monday morning rush hour and half of us are stuck on the platform waiting for a train that's never going to arrive and the other half are stuck underground london grinds to a halt now what does this mean for a cell simple molecules don't get to where they need to go so they can't do what they need to do and the cell stops working so because all of the different cells in the body use this system all from the ones in your liver to the ones in your

kidneys and bones all these different types of cells stop working which really explains the symptoms of the little boy i described to you earlier right and why they were all across his body now what i do is i look particularly at the kidney and i look at where and when in development these trains start to derail and i look at the consequences of the crashes and then later on in my phd what i'm going to be doing is i'm going to be using a gene therapy to put back the part of the tracks that's broken

so that cases like the little boys i just described to you are a thing of the past thank you very much i